Dysregulation of the oxytocin receptor gene in Williams syndrome

PSYCHONEUROENDOCRINOLOGY

卷:115

Article

Kimura, Ryo¹  Tomiwa, Kiyotaka^2,3,4  Inoue, Ryo⁵  Suzuki, Shiho¹  Nakata, Masatoshi¹  Awaya, Tomonari¹  Kato, Takeo^2,6  Okazaki, Shin³  Heike, Toshio^2,6  Hagiwara, Masatoshi¹ 

[1] Kyoto Univ, Grad Sch Med, Dept Anat & Dev Biol, Kyoto 6068501, Japan

[2] Kyoto Univ, Grad Sch Med, Dept Pediat, Kyoto 6068507, Japan

[3] Osaka City Gen Hosp, Dept Child Neurol, Osaka, Japan

[4] Todaiji Ryoiku Hosp Children, Nara 6308211, Japan

[5] Kyoto Prefectural Univ, Dept Agr & Life Sci, Lab Anim Sci, Kyoto 6068522, Japan

[6] Hyogo Prefectural Amagasaki Gen Med Ctr, Dept Pediat, Amagasaki, Hyogo 6608550, Japan

关键词: DNA methylation;    Gene expression;    OXTR;    Oxytocin;    Social behavior;    Williams syndrome;   

DOI  :  10.1016/j.psyneuen.2020.104631

来源: Elsevier

【 摘 要 】

Williams syndrome (WS) is caused by a microdeletion of chromosome 7q11.23, and is characterized by various physical and cognitive symptoms. In particular, WS is characterized by hypersocial (overfriendly) behavior; WS has gained attention as aspects of the WS phenotype contrast with those of autism spectrum disorder (ASD). The oxytocin receptor gene (OXTR) contributes to social phenotypes in relation to regulation of oxytocin (OXT) secretion. Additionally, mounting evidence has recently shown that DNA methylation of OXTR is associated with human social behavior. However, the role of OXTR in WS remains unclear. This study investigated the regulation of OXTR in WS. We examined the gene expression levels in blood from WS patients and controls, and then analyzed the methylation levels in two independent cohorts. We showed that OXTR was down-regulated and hypermethylated in WS patients compared to controls. Our findings may provide an insight into OXTR in mediating complex social phenotypes in WS.

【 授权许可】

Free